The Medical Genome Initiative has launched a webinar series to discuss relevant literature and hot topics around whole-genome sequencing (WGS) for rare disease. Presenters will review recent publications and hot topics and discuss complex cases where WGS played a valuable role in patient care.

April 25, 2024: Link to registration

• Title: Evidence review and considerations for first line genomic sequencing for rare genetic disorders
• Speaker: Kristen Wigby, MD

August 9, 2023:  

• Title: Genome Sequencing for the Diagnosis of Rare Disease: Momentum in Access & Policy Change
• Speakers: Jessie Conta, PLUGS;  Theresa Andrews, Illumina and Vaidehi Jobanputra, NY Genome Center

October 2022:

• Title: Considerations for Next-Generation Sequencing Reanalysis
• Speakers: Pei Dai, MD, PhD and Jerica Lenberg, MS, LCGC

May 2022: 

• Title: Best Practices for Whole-Genome Sequencing Interpretation and Reporting
• Speakers: Christine Austin-Tse, PhD and Amanda Thomas-Wilson, PhD, FACMG

March 2022: 

• Title: Discussion of real-world evidence demonstrating significant underutilization of genetic testing in children with suspected genetic disease and the role of the genetics community to improve utilization.
• Speakers: Brock Schroeder, PhD, Elizabeth Spiteri, PhD, and Robin Hayeems, PhD

October 2021: 

• Title: Review of the American College of Medical Genetics and Genomics Evidence-Based Guideline: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
• Speakers: Shashikant Kulkarni, MS, PhD, FACMG and Alka Malhotra, PhD